ClinVar Miner

List of variants reported as not provided for benign partial infantile seizures

Included ClinVar conditions (19):

Autism; Seizures, benign familial infantile, 3; Episodic ataxia, type 9; Developmental and epileptic encephalopathy, 76
Benign familial infantile epilepsy
Benign familial neonatal-infantile seizures 1; Developmental and epileptic encephalopathy, 11; Intellectual disability
Benign familial neonatal-infantile seizures 1; Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; SCN2A-related generalized epilepsy with febrile seizures plus
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2
Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5
Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2
Infantile convulsions and choreoathetosis
Seizures, benign familial infantile, 2
Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1
Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1; Infantile convulsions and choreoathetosis
Seizures, benign familial infantile, 3
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; Episodic ataxia, type 9
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; Episodic ataxia, type 9; Complex neurodevelopmental disorder
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 1; Autism spectrum disorder; SCN2A-related generalized epilepsy with febrile seizures plus; West syndrome; Myoclonic-astatic epilepsy; Non-syndromic intellectual disability; Lennox-Gastaut syndrome; Continuous spikes and waves during sleep
Seizures, benign familial infantile, 3; SCN2A-related generalized epilepsy with febrile seizures plus
Seizures, benign familial infantile, 5

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala)	rs147522594	0.00016
NM_145239.3(PRRT2):c.773G>A (p.Gly258Glu)	rs560303559	0.00005
NM_001040142.2(SCN2A):c.208C>G (p.Pro70Ala)
NM_001040142.2(SCN2A):c.2767T>C (p.Trp923Arg)	rs1057524573
NM_001040142.2(SCN2A):c.3671_3674dup (p.Ala1226fs)
NM_001040142.2(SCN2A):c.4264A>G (p.Lys1422Glu)	rs796053137
NM_001040142.2(SCN2A):c.4801G>T (p.Val1601Leu)	rs1553463140
NM_001040142.2(SCN2A):c.5272A>C (p.Ser1758Arg)	rs1064794005
NM_001040142.2(SCN2A):c.593T>A (p.Val198Asp)	rs1697272829
NM_001330260.2(SCN8A):c.3942+2_3942+5dup	rs764867016
NM_001330260.2(SCN8A):c.632T>G (p.Val211Gly)	rs1592380834
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)

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